Canonical Allele Identifier: CA430269267

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2013015
• ClinVar RCV Id: RCV002834346
• gnomAD v4: 2-178601542-A-G
• MyVariant Identifiers: chr2:g.179466269A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178601542A>G , CM000664.2:g.178601542A>G	GRCh38
NC_000002.11:g.179466269A>G , CM000664.1:g.179466269A>G	GRCh37
NC_000002.10:g.179174514A>G	NCBI36
NG_011618.3:g.234261T>C , LRG_391:g.234261T>C
NG_051363.1:g.83716A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.47751T>C (TTN)	ENSP00000343764.6:p.Asp15917=
ENST00000342175.11:c.28836T>C (TTN)	ENSP00000340554.6:p.Asp9612=
ENST00000359218.10:c.28635T>C (TTN)	ENSP00000352154.5:p.Asp9545=
ENST00000342175.10:c.28836T>C (TTN)	ENSP00000340554.6:p.Asp9612=
ENST00000342992.10:c.47751T>C (TTN)	ENSP00000343764.6:p.Asp15917=
ENST00000359218.9:c.28635T>C (TTN)	ENSP00000352154.5:p.Asp9545=
ENST00000460472.6:c.28260T>C (TTN)	ENSP00000434586.1:p.Asp9420=
ENST00000589042.5:c.55455T>C (TTN) MANE Select	ENSP00000467141.1:p.Asp18485=
ENST00000591111.5:c.50532T>C (TTN)	ENSP00000465570.1:p.Asp16844=
ENST00000615779.4:c.50532T>C (TTN)	ENSP00000483597.1:p.Asp16844=
NM_001256850.1:c.50532T>C (TTN)	NP_001243779.1:p.Asp16844=
NM_001267550.2:c.55455T>C (TTN) MANE Select	NP_001254479.2:p.Asp18485=
NM_003319.4:c.28260T>C (TTN)	NP_003310.4:p.Asp9420=
NM_133378.4:c.47751T>C (TTN)	NP_596869.4:p.Asp15917=
NM_133432.3:c.28635T>C (TTN)	NP_597676.3:p.Asp9545=
NM_133437.4:c.28836T>C (TTN)	NP_597681.4:p.Asp9612=
NR_038271.1:n.682+3861A>G (TTN-AS1)
NR_038272.1:n.3917+875A>G (TTN-AS1)
XM_011511729.1:c.54552T>C (TTN)	XP_011510031.1:p.Asp18184=
XM_011511730.1:c.28446T>C (TTN)	XP_011510032.1:p.Asp9482=
XM_011511731.1:c.28305T>C (TTN)	XP_011510033.1:p.Asp9435=
XM_017004819.1:c.54348T>C (TTN)	XP_016860308.1:p.Asp18116=
XM_017004820.1:c.49746T>C (TTN)	XP_016860309.1:p.Asp16582=
XM_017004821.1:c.49743T>C (TTN)	XP_016860310.1:p.Asp16581=
XM_017004822.1:c.46785T>C (TTN)	XP_016860311.1:p.Asp15595=
XM_017004823.1:c.28401T>C (TTN)	XP_016860312.1:p.Asp9467=
XM_024453094.1:c.49896T>C (TTN)	XP_024308862.1:p.Asp16632=
XM_024453095.1:c.49893T>C (TTN)	XP_024308863.1:p.Asp16631=
XM_024453096.1:c.49326T>C (TTN)	XP_024308864.1:p.Asp16442=
XM_024453097.1:c.46668T>C (TTN)	XP_024308865.1:p.Asp15556=
XM_024453098.1:c.46587T>C (TTN)	XP_024308866.1:p.Asp15529=
XM_024453099.1:c.28350T>C (TTN)	XP_024308867.1:p.Asp9450=
XM_024453100.1:c.18204T>C (TTN)	XP_024308868.1:p.Asp6068=